615574.5

Country

Saudi Arabia

HPO Terms

Lissencephaly; Abnormal lateral ventricle morphology; Abnormality of neuronal migration; Sparse eyebrow; Hypertelorism; Bilateral microphthalmos ; Broad nasal tip; Spasticity
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001673.5:c.1193A>G2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615574.1Saudi ArabiaPrimary microcephaly ; Severe global developmental delay; Cerebral visual impairment; SeizureMaleNoYes
615574.2Saudi ArabiaGlobal developmental delay; SeizureMaleYesYesAffected cousin
615574.3Saudi ArabiaGlobal developmental delay; Microcephaly; SeizureFemaleNoYes
615574.6Saudi ArabiaCerebral atrophy; Cerebellar atrophy; Cerebral white matter atrophy; Hypertelorism; Strabismus; Depressed nasal bridgeFemaleYesYes
615574.7Saudi ArabiaBrain atrophy; Abnormality of neuronal migration; Frontal cortical atrophy; Lissencephaly; Low-set ears; RetrognathiaMaleYesYes
615574.9Saudi ArabiaCerebral atrophy; Lissencephaly; Sloping forehead; Micrognathia; Exaggerated startle response; Hypertonia ; Hyperreflexia; Distal arthrogryposisMaleYesYes
615574.10Saudi ArabiaDysplastic corpus callosum; Brain atrophy; Intrauterine growth retardationFemaleYesYes
615574.11Saudi ArabiaLissencephaly; Cerebellar hypoplasia; Hypoplasia of the brainstem; Abnormality of neuronal migration; Epileptic encephalopathyFemaleYesYes
615574.12Saudi ArabiaBrain atrophy; Narrow forehead; Small hand; Short foot; Strabismus; Hypotonia; Exaggerated startle responseFemaleNoYes
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